Canonical Allele Identifier: CA171954689
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs984523931
gnomAD v3: 8-10622762-C-G
gnomAD v4: 8-10622762-C-G
MyVariant Identifiers: chr8:g.10480272C>G (hg19) chr8:g.10622762C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622762C>G , CM000670.2:g.10622762C>G GRCh38
NC_000008.10:g.10480272C>G , CM000670.1:g.10480272C>G GRCh37
NC_000008.9:g.10517682C>G NCBI36
NG_028035.1:g.37346G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.440G>C MANE Select ENSP00000371923.3:p.Ser147Thr
ENST00000329335.3:n.690G>C
ENST00000382483.3:c.440G>C ENSP00000371923.3:p.Ser147Thr
NM_178857.5:c.440G>C NP_849188.4:p.Ser147Thr
NM_178857.6:c.440G>C MANE Select NP_849188.4:p.Ser147Thr
Search 100 bp 5'
Search 100 bp 3'